ClinVar Miner

Submissions for variant NM_015665.6(AAAS):c.124-4A>G

gnomAD frequency: 0.00001  dbSNP: rs886049651
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000393947 SCV000380182 uncertain significance Glucocorticoid deficiency with achalasia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003765812 SCV004622627 likely benign not provided 2023-11-14 criteria provided, single submitter clinical testing

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